LDH info

Canonical Allele Identifier: CA213324
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 210335
ClinVar RCV Id: RCV000192847
dbSNP Id: rs797045303

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013432_25013433delinsTA , CM000685.2:g.25013432_25013433delinsTA GRCh38
NC_000023.10:g.25031549_25031550delinsTA , CM000685.1:g.25031549_25031550delinsTA GRCh37
NC_000023.9:g.24941470_24941471delinsTA NCBI36
NG_008281.1:g.7516_7517delinsTA

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.562_563delinsTA VV NP_620689.1:p.Ala188Ter
NM_139058.3:c.562_563delinsTA VV MANE Preferred NP_620689.1:p.Ala188Ter
ENST00000379044.4:c.562_563delinsTA ENSP00000368332.4:p.Ala188Ter